JAK2 (GeneID: 3717) | Homo sapiens
Description: Janus kinase 2 [Source:HGNC Symbol;Acc:HGNC:6192]
Synonyms: JTK10, THCYT3
Other ID(s): HGNC:6192, ENSG00000096968
Protein Accession Numbers: ENST00000539801, NP_004963, NP_001309127, NP_001309123, ENST00000381652.3, NP_001309133, NP_001309125, ENST00000544510, ENST00000381652, NP_001309128, NP_001309124
Statistics: ClinVar(53) gnomAD(762) COSMIC(19715)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000381652 ENST00000539801 ENST00000544510 You are here now! NP_001309123 NP_001309124 NP_001309125 NP_001309127 NP_001309128 NP_001309133 You are here now! NP_004963


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Spontaneous abortion Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Abortion, Tubal Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Primary Myelofibrosis Hemic and Lymphatic Diseases ; 0.43 0.69
Calcinosis Nutritional and Metabolic Diseases ; 0.43 0.69
Uterine Cervical Neoplasm Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Ulcerative Colitis Digestive System Diseases ; 0.43 0.69
Cytopenia N/A 0.43 0.69
Heart valve disease Cardiovascular Diseases ; 0.43 0.69
Hepatic Vein Thrombosis Digestive System Diseases ; Cardiovascular Diseases ; 0.43 0.69
Hepatoma, Morris Neoplasms ; Digestive System Diseases ; 0.43 0.69
Hepatoma, Novikoff Neoplasms ; Digestive System Diseases ; 0.43 0.69
Inflammation Pathological Conditions, Signs and Symptoms ; 0.43 0.69
leukemia Neoplasms ; 0.43 0.69
Leukemia, Myelocytic, Acute Neoplasms ; 0.43 0.69
Myeloid Leukemia, Chronic Neoplasms ; Hemic and Lymphatic Diseases ; 0.43 0.69
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.43 0.69
Liver Neoplasms, Experimental Neoplasms ; Digestive System Diseases ; 0.43 0.69
Mesenteric Vascular Occlusion Digestive System Diseases ; Cardiovascular Diseases ; 0.43 0.69
Myelofibrosis N/A 0.43 0.69
Acute Myeloid Leukemia, M1 Neoplasms ; 0.43 0.69
Myeloproliferative disease Hemic and Lymphatic Diseases ; 0.43 0.69
Polycythemia Hemic and Lymphatic Diseases ; 0.43 0.69
Polycythemia Vera Neoplasms ; Hemic and Lymphatic Diseases ; 0.43 0.69
Pregnancy Complications Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.43 0.69
Thrombocythemia, Essential Hemic and Lymphatic Diseases ; 0.43 0.69
Thromboembolism Cardiovascular Diseases ; 0.43 0.69
Venous Thrombosis Cardiovascular Diseases ; 0.43 0.69
Diffuse Large B-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.43 0.69
Experimental Hepatoma Neoplasms ; Digestive System Diseases ; 0.43 0.69
Deep Vein Thrombosis Cardiovascular Diseases ; 0.43 0.69
Myocardial Ischemia Cardiovascular Diseases ; 0.43 0.69
Familial erythrocytosis Hemic and Lymphatic Diseases ; 0.43 0.69
Congenital anemia N/A 0.43 0.69
Tumoral calcinosis Nutritional and Metabolic Diseases ; 0.43 0.69
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.43 0.69
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.43 0.69
Non-alcoholic Fatty Liver Disease Digestive System Diseases ; 0.43 0.69
Microcalcification Nutritional and Metabolic Diseases ; 0.43 0.69
Thrombocytosis Hemic and Lymphatic Diseases ; 0.43 0.69
Budd-Chiari Syndrome Digestive System Diseases ; Cardiovascular Diseases ; 0.43 0.69
Adult Diffuse Large B-Cell Lymphoma N/A 0.43 0.69
Childhood Diffuse Large B-Cell Lymphoma N/A 0.43 0.69
Ovarian Serous Adenocarcinoma N/A 0.43 0.69
Erythrocytosis Hemic and Lymphatic Diseases ; 0.43 0.69
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.43 0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.43 0.69
Nonalcoholic Steatohepatitis Digestive System Diseases ; 0.43 0.69
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO N/A 0.43 0.69
THROMBOCYTHEMIA 3 N/A 0.43 0.69
Thrombocytosis, Autosomal Dominant Hemic and Lymphatic Diseases ; 0.43 0.69
cervical cancer Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Familial thrombocytosis N/A 0.43 0.69
NO RESULT FOUND
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